Varaico: Literature-Extracted Genetic Variants

PDE10A

80 papers

RefSeq Summary

The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. ...

Pfam Domains

GAFaa 367–510UCSCGAF domain

GAFaa 542–688UCSCGAF domain

PDEase_Iaa 790–1021UCSC3'5'-cyclic nucleotide phosphodiesterase

Gene Aliases

HGNC Name

phosphodiesterase 10A

HGNC Alias Name

cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001385079.1

p.P206delFs

c.617delG

Surrounding Variants

1 paper

NM_001385079.1

p.A209T

c.625G>A

1 paper

NM_001385079.1

p.L203fs

c.607_608fs

1 paper

NM_001385079.1

p.A199delFs

c.595delC

1 paper

NM_001385079.1

p.P198A

c.592C>G

1 paper

NM_001385079.1

p.P217insFs

c.649dupC

1 paper

NM_001385079.1

p.P217delFs

c.650delG

1 paper

NM_001385079.1

p.L219fs

c.655_656fs

1 paper

NM_001385079.1

p.P220delFs

c.658_659delGG

1 paper

NM_001385079.1

p.G222G

c.666C>A

1 paper

NM_001385079.1

p.G185S

c.553G>A

1 paper

NM_001385079.1

p.T177T

c.531C>T

1 paper

NM_001385079.1

p.G242S

c.724G>A